Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax: A Possibility of Birt-Hogg-Dubé Syndrome
Hiroshi IshiiHiroaki OkaYuka AmemiyaAtsuko IwataSatoshi OtaniKenji KishiRyo ShiraiIssei TokimatsuKatsunobu KawaharaJun-ichi Kadota
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2009 Volume 48 Issue 16 Pages 1413-1417


We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patient's father and half brother also experienced recurrent pneumothorax, and both had similar findings in their chest CT. In a genetic analysis of her half brother, the mutation of the BHD gene was identified. BHD syndrome is a rare autosomal and dominantly inherited disorder, which has three characteristics: multiple lung cysts that may be associated with pneumothorax, skin fibrofolliculomas, and renal neoplasm. For multiple-cystic disease of the lungs with an unknown etiology, or pneumothorax, as seen in a family history, it is necessary to consider the possibility of BHD syndrome.

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© 2009 by The Japanese Society of Internal Medicine
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